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    UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 [ Homo sapiens (human) ]

    Gene ID: 6675, updated on 5-Mar-2024

    Summary

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    Official Symbol
    UAP1provided by HGNC
    Official Full Name
    UDP-N-acetylglucosamine pyrophosphorylase 1provided by HGNC
    Primary source
    HGNC:HGNC:12457
    See related
    Ensembl:ENSG00000117143 MIM:602862; AllianceGenome:HGNC:12457
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AGX; AGX1; AGX2; SPAG2
    Summary
    Enables identical protein binding activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 52.4), liver (RPKM 41.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (162561531..162601240)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (161905541..161945257)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162531321..162571030)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ubiquinol-cytochrome c reductase binding protein pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1494 Neighboring gene UAP1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2011 Neighboring gene discoidin domain receptor tyrosine kinase 2 Neighboring gene Sharpr-MPRA regulatory region 4859 Neighboring gene RNA, 7SL, cytoplasmic 861, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1495 Neighboring gene MPRA-validated peak435 silencer Neighboring gene hydroxysteroid 17-beta dehydrogenase 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1. Chen X, et al. FEBS Lett, 2021 Jan. PMID 33098688, Free PMC Article
    2. Quantitative Proteomics of Urinary Bladder Cancer Cell Lines Identify UAP1 as a Potential Therapeutic Target. Puttamallesh VN, et al. Genes (Basel), 2020 Jul 8. PMID 32650368, Free PMC Article
    3. UAP1 is overexpressed in prostate cancer and is protective against inhibitors of N-linked glycosylation. Itkonen HM, et al. Oncogene, 2015 Jul. PMID 25241896
    4. Crystal structures of two human pyrophosphorylase isoforms in complexes with UDPGlc(Gal)NAc: role of the alternatively spliced insert in the enzyme oligomeric assembly and active site architecture. Peneff C, et al. EMBO J, 2001 Nov 15. PMID 11707391, Free PMC Article
    5. A 17-amino acid insert changes UDP-N-acetylhexosamine pyrophosphorylase specificity from UDP-GalNAc to UDP-GlcNAc. Wang-Gillam A, et al. J Biol Chem, 1998 Oct 16. PMID 9765219

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1.
      Title: A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1.
    2. Quantitative Proteomics of Urinary Bladder Cancer Cell Lines Identify UAP1 as a Potential Therapeutic Target.
      Title: Quantitative Proteomics of Urinary Bladder Cancer Cell Lines Identify UAP1 as a Potential Therapeutic Target.
    3. Results identified an enzyme, UAP1, which is highly overexpressed in prostate cancer and protects cancer cells from endoplasmic reticulum stress conferring a growth advantage.
      Title: UAP1 is overexpressed in prostate cancer and is protective against inhibitors of N-linked glycosylation.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-N-acetylgalactosamine diphosphorylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UDP-N-acetylglucosamine diphosphorylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine pyrophosphorylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in UDP-N-acetylglucosamine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in UDP-N-acetylglucosamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in antiviral innate immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of type I interferon production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    UDP-N-acetylhexosamine pyrophosphorylase
    Names
    UDP-N-acetylgalactosamine pyrophosphorylase
    UDP-N-acetylglucosamine diphosphorylase 1
    UDP-N-acetylhexosamine pyrophosphorylase 1
    antigen X
    protein-pyrophosphorylation enzyme
    sperm associated antigen 2
    testis tissue sperm-binding protein Li 37a
    NP_001311042.1
    NP_001311043.1
    NP_001311044.1
    NP_001311045.1
    NP_001311046.1
    NP_001375330.1
    NP_001375331.1
    NP_001386719.1
    NP_001386720.1
    NP_001386721.1
    NP_001386722.1
    NP_003106.3
    XP_047284799.1
    XP_047284801.1
    XP_047284804.1
    XP_047284805.1
    XP_054194434.1
    XP_054194435.1
    XP_054194436.1
    XP_054194437.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001324113.2 → NP_001311042.1  UDP-N-acetylhexosamine pyrophosphorylase isoform a

      Status: VALIDATED

      Source sequence(s)
      AL596325
      Consensus CDS
      CCDS1240.1
      UniProtKB/TrEMBL
      A0A140VKC0
      Conserved Domains (1) summary
      cd04193
      Location:88 → 410
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    2. NM_001324114.2 → NP_001311043.1  UDP-N-acetylhexosamine pyrophosphorylase isoform a

      Status: VALIDATED

      Source sequence(s)
      AL596325
      Consensus CDS
      CCDS1240.1
      UniProtKB/TrEMBL
      A0A140VKC0
      Conserved Domains (1) summary
      cd04193
      Location:88 → 410
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    3. NM_001324115.3 → NP_001311044.1  UDP-N-acetylhexosamine pyrophosphorylase isoform a

      Status: VALIDATED

      Source sequence(s)
      AL596325
      Consensus CDS
      CCDS1240.1
      UniProtKB/TrEMBL
      A0A140VKC0
      Conserved Domains (1) summary
      cd04193
      Location:88 → 410
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    4. NM_001324116.5 → NP_001311045.1  UDP-N-acetylhexosamine pyrophosphorylase isoform b

      Status: VALIDATED

      Source sequence(s)
      AL596325
      Consensus CDS
      CCDS81393.1
      UniProtKB/Swiss-Prot
      B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2
      Related
      ENSP00000356902.1, ENST00000367925.6
      Conserved Domains (1) summary
      cd04193
      Location:88 → 410
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    5. NM_001324117.3 → NP_001311046.1  UDP-N-acetylhexosamine pyrophosphorylase isoform c

      Status: VALIDATED

      Source sequence(s)
      AL596325
      UniProtKB/Swiss-Prot
      Q16222
      Conserved Domains (1) summary
      cd04193
      Location:88 → 410
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    6. NM_001388401.1 → NP_001375330.1  UDP-N-acetylhexosamine pyrophosphorylase isoform b

      Status: VALIDATED

      Source sequence(s)
      AL596325
      Consensus CDS
      CCDS81393.1
      UniProtKB/Swiss-Prot
      B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2
      Conserved Domains (1) summary
      cd04193
      Location:88 → 410
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    7. NM_001388402.1 → NP_001375331.1  UDP-N-acetylhexosamine pyrophosphorylase isoform b

      Status: VALIDATED

      Source sequence(s)
      AL596325
      Consensus CDS
      CCDS81393.1
      UniProtKB/Swiss-Prot
      B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2
      Conserved Domains (1) summary
      cd04193
      Location:88 → 410
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    8. NM_001399790.1 → NP_001386719.1  UDP-N-acetylhexosamine pyrophosphorylase isoform a

      Status: VALIDATED

      Source sequence(s)
      AL596325
      Consensus CDS
      CCDS1240.1
      UniProtKB/TrEMBL
      A0A140VKC0

    9. NM_001399791.1 → NP_001386720.1  UDP-N-acetylhexosamine pyrophosphorylase isoform b

      Status: VALIDATED

      Source sequence(s)
      AL596325
      Consensus CDS
      CCDS81393.1
      UniProtKB/Swiss-Prot
      B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2

    10. NM_001399792.1 → NP_001386721.1  UDP-N-acetylhexosamine pyrophosphorylase isoform d

      Status: VALIDATED

      Source sequence(s)
      AL596325

    11. NM_001399793.1 → NP_001386722.1  UDP-N-acetylhexosamine pyrophosphorylase isoform e

      Status: VALIDATED

      Source sequence(s)
      AL596325

    12. NM_003115.6 → NP_003106.3  UDP-N-acetylhexosamine pyrophosphorylase isoform a

      See identical proteins and their annotated locations for NP_003106.3

      Status: VALIDATED

      Source sequence(s)
      AL596325
      Consensus CDS
      CCDS1240.1
      UniProtKB/TrEMBL
      A0A140VKC0
      Related
      ENSP00000356903.4, ENST00000367926.9
      Conserved Domains (1) summary
      cd04193
      Location:88 → 410
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    RNA

    1. NR_174352.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL596325

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      162561531..162601240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428845.1 → XP_047284801.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X2

    2. XM_047428848.1 → XP_047284804.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X2

    3. XM_047428843.1 → XP_047284799.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X1

      UniProtKB/Swiss-Prot
      B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2

    4. XM_047428849.1 → XP_047284805.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      161905541..161945257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338460.1 → XP_054194435.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X2

    2. XM_054338461.1 → XP_054194436.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X2

    3. XM_054338459.1 → XP_054194434.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X1

      UniProtKB/Swiss-Prot
      B2R6R8, Q16222, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2

    4. XM_054338462.1 → XP_054194437.1  UDP-N-acetylhexosamine pyrophosphorylase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16222.3 GenPept UniProtKB/Swiss-Prot:Q16222

    Gene LinkOut

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